Mutations in RASA1 and GDF2 identified in patients with clinical features of hereditary hemorrhagic telangiectasia-Reference-Cited by-同舟云学术

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Mutations in RASA1 and GDF2 identified in patients with clinical features of hereditary hemorrhagic telangiectasia

Published:2015-11-05 Issue:1 Volume:2 Page:
ISSN:2054-345X
Container-title:Human Genome Variation
language:en
Short-container-title:Hum Genome Var

Author:

Hernandez Felicia,Huether Robert,Carter Lester,Johnston Tami,Thompson Jennifer,Gossage James R,Chao Elizabeth,Elliott Aaron M

Publisher

Springer Science and Business Media LLC

Subject

Genetics,Molecular Biology,Biochemistry

Link

http://www.nature.com/articles/hgv201540.pdf

Reference26 articles.

1. McDonald J, Bayrak-Toydemir P, Pyeritz RE . Hereditary hemorrhagic telangiectasia: an overview of diagnosis, management, and pathogenesis. Genet Med 2011; 13: 607–616.

2. Richards-Yutz J, Grant K, Chao EC, Walther SE, Ganguly A . Update on molecular diagnosis of hereditary hemorrhagic telangiectasia. Hum Genet 2010; 128: 61–77.

3. Revencu N, Boon LM, Mendola A, Cordisco MR, Dubois J, Clapuyt P et al. RASA1 mutations and associated phenotypes in 68 families with capillary malformation-arteriovenous malformation. Hum Mutat 2013; 34: 1632–1641.

4. Orme CM, Boyden LM, Choate KA, Antaya RJ, King BA . Capillary malformation--arteriovenous malformation syndrome: review of the literature, proposed diagnostic criteria, and recommendations for management. Pediatr Dermatol 2013; 30: 409–415.

5. Wooderchak-Donahue WL, McDonald J, O'Fallon B, Upton PD, Li W, Roman BL et al. BMP9 mutations cause a vascular-anomaly syndrome with phenotypic overlap with hereditary hemorrhagic telangiectasia. Am J Hum Genet 2013; 93: 530–537.

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1. Recurrence of Pulmonary Arteriovenous Malformation after Embolization in Patients with Pulmonary Hypertension;Journal of Vascular and Interventional Radiology;2024-08

2. Another face of RASA1: Report of familial germline variant in RASA1 with dysmorphic features;American Journal of Medical Genetics Part A;2024-06-27

3. Hepatic manifestations of hereditary haemorrhagic telangiectasia;Liver International;2024-06-07

4. Hereditary hemorrhagic telangiectasia: from signaling insights to therapeutic advances;Journal of Clinical Investigation;2024-02-15

5. Prevalence and Predictors of Hereditary Hemorrhagic Telangiectasia and Capillary-Malformation Arteriovenous Malformation Syndrome Among Children with Neurovascular Malformations;The Journal of Pediatrics;2024-01

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